Williams SyndromeWS and ASDNCT07509879
Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum Disorder
An observational study of Williams Syndrome and Autism Disorder, run by Qilu Hospital of Shandong University at 1 site in China.
Trial summary
Williams Syndrome (WS) is a rare neurodevelopmental disorder, usually caused by microdeletions of approximately 26 genes in the long arm (7q11.23) region of chromosome 7. Children with this syndrome often exhibit distinctive facial features, mild to moderate intellectual disability, impaired spatial cognition… Read more about this study
- Who is it for?
- Ages 3 to 12 yearsHealthy volunteers can take part
- Conditions the study is for
- Williams Syndrome, Autism Disorder
- How many people
- 75 participants
- Where
- 1 siteChina
- Study dates
- 1 Apr 2026to 1 Dec 2026
- How long will I take part?
- 1 Month
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 12 years
- All sexes
- Healthy volunteers accepted
- Child
Study population: Source of research participants: WS research participants, ASD research participants and normal children controls who visited the pediatric health rehabilitation clinic
Who may be able to join
- Age 3-12 years old.
- Clinically diagnosed and confirmed by fluorescence in situ hybridization (FISH) test, with a typical microdeletion of approximately 1.55 Mb in the chromosome 7q11.23 region.
- Their legal guardians fully understand the study content and voluntarily sign the informed consent form, agreeing for the study participants to undergo blood sampling and genetic testing.
- Participants for Autism Spectrum Disorder Study
- Age 3-12 years old.
- Clinically diagnosed according to the second edition of the Autism Diagnostic Observation Schedule (ADOS-2) criteria.
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- Their legal guardians fully understand the study content and voluntarily sign the informed consent form, agreeing for the study participants to undergo blood sampling and genetic testing.
- Participants for Healthy Children Study
- Age 3-12 years old, with gender as close as possible to the participants in the above two groups.
- No history of neurodevelopmental disorders, mental illnesses or major neurological diseases.
- Their legal guardians fully understand the study content and voluntarily sign the informed consent form, agreeing for the study participants to undergo blood sampling and genetic testing.
- Common Exclusion Criteria for All Study Participants
- Any of the following conditions must be met to be excluded from the study:
- Specific medical conditions:
- For the Williams Syndrome group: Known or suspected presence of other pathogenic gene mutations/syndromes other than the 7q11.23 microdeletion.
- For the Autism Spectrum Disorder group: Co-occurring other clearly diagnosed neurodevelopmental disorders (such as Rett syndrome, fragile X syndrome, etc.).
- Brain structural abnormalities: According to recent cranial MRI and interpretation by neuro-radiology experts, significant brain structural lesions are found (for the patient group, referring to lesions unrelated to Williams Syndrome or autism; for the healthy group, referring to any clinically significant abnormalities).
- Major systemic diseases: Presence of diseases with clinical significance as judged by the researchers, which may: affect the interpretation of study results, or endanger the safety of the study participants.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site
Qilu Hospital of Shandong University
Jinan, Shandong, 250012
Ai Cao, 18560086317, qlyyebk@163.com
About this study
Williams Syndrome (WS) is a rare neurodevelopmental disorder, usually caused by microdeletions of approximately 26 genes in the long arm (7q11.23) region of chromosome 7. Children with this syndrome often exhibit distinctive facial features, mild to moderate intellectual disability, impaired spatial cognition, pronounced social extraversion, and relatively reserved language-expression characteristics. Although individuals with WS often demonstrate strong social interest and prosocial behaviors, significant deficiencies in abstract thinking, executive function, and visuospatial ability are frequently observed. At present, treatment for WS mainly focuses on behavioral intervention and educational rehabilitation, and clear molecular or pharmacological treatment methods remain limited. Due to the "opposite but related" social-cognitive profile observed in comparison with autism spectrum disorder, in-depth exploration of neural and molecular mechanisms underlying these differences has substantial scientific significance for understanding the biological basis of social-cognitive impairment.
- Conditions
- Williams Syndrome, Autism Disorder
- Keywords
- Williams Syndrome, Autism Spectrum Disorder, Neuroimaging, Genetics
- Medical subject headings
- Williams Syndrome, Autistic Disorder, Autism Spectrum Disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Williams Syndrome | After clinical diagnosis and confirmation through fluorescence in situ hybridization (FISH) testing, a typical microdeletion of approximately 1.55 Mb in the chromosome 7q11.23 region was identified. | |
| Autism Spectrum disorder | It meets the clinical diagnostic criteria of the Second Edition of the Autism Diagnostic Observation Scale (ADOS-2). | |
| healthy children | There is no history of neurodevelopmental disorders, mental illness or major neurological diseases |
What is being measured
The primary outcome is the main question the study is designed to answer.
The score of Motor Quotient in Peabody Developmental Motor Scales, Second Edition (PDMS-2)
Motor development will be assessed using the Peabody Developmental Motor Scales, Second Edition (PDMS-2). The endpoint is the Motor Quotient (range: 50-150). Higher scores indicate better motor functioning (i.e., better outcome). Group differences will be evaluated across WS, ASD, and typically developing controls.
Measured: Baseline
The score of Developmental Quotient (DQ) in Gesell Developmental Schedules (GDS)
Neurodevelopmental level will be assessed using the Gesell Developmental Schedules (Gesell Developmental Scale). The endpoint is the Developmental Quotient (DQ) (range: 0-130). Higher scores indicate better developmental functioning (i.e., better outcome). Group differences will be evaluated across WS, ASD, and typically developing controls.
Measured: Baseline
Fractional Anisotropy (FA)
White matter microstructural integrity will be quantified using DTI-derived fractional anisotropy (FA). FA values range from 0 to 1, with higher values indicating greater directional diffusion and typically better white matter integrity (i.e., better outcome). Group differences will be evaluated across WS, ASD, and typically developing controls. Unit of Measure : mm²/s (typically reported as ×10-³ mm²/s)
Measured: baseline
The score pf Social Responsiveness Scale, Second Edition (SRS-2)
Social communication will be assessed using the Social Responsiveness Scale, Second Edition (SRS-2). The primary endpoint is the SCI T-score (range: 0-100). Higher scores indicate worse social communication impairment (i.e., poorer outcome). Group differences will be compared across WS, ASD, and typically developing controls.
Measured: baseline
Secondary outcomes (6)
Diffusion Tensor Imaging (DTI) Axial Diffusivity (AD)
White matter microstructural properties will be quantified using DTI-derived axial diffusivity (AD). AD will be summarized as the mean AD within prespecified white matter regions of interest (ROIs) (or whole-brain white matter skeleton, if applicable). Higher AD indicates greater diffusion along the principal axis; interpretation (better/worse) is direction-dependent and will be interpreted in the context of neurodevelopmental findings. Unit of Measure: mm²/s (typically reported as ×10-³ mm²/s)
Measured: Baseline
Diffusion Tensor Imaging (DTI) Mean Diffusivity (MD)
DTI-derived mean diffusivity (MD) will be calculated and summarized as the mean MD within prespecified white matter ROIs (or whole-brain white matter skeleton, if applicable). Higher MD indicates greater overall water diffusion and is commonly interpreted as reduced microstructural integrity (worse outcome). Unit of Measure: mm²/s (typically reported as ×10-³ mm²/s)
Measured: Baseline
Diffusion Tensor Imaging (DTI) Radial Diffusivity (RD)
DTI-derived radial diffusivity (RD) will be calculated and summarized as the mean RD within prespecified white matter ROIs (or whole-brain white matter skeleton, if applicable). Higher RD indicates greater diffusion perpendicular to the principal axis and is often interpreted as poorer myelination or reduced microstructural integrity (worse outcome).Unit of Measure: mm²/s (typically reported as ×10-³ mm²/s)
Measured: Baseline
Structural MRI (sMRI) Cortical Volume
Cortical morphology will be quantified from T1-weighted structural MRI. Cortical volume will be computed using an automated cortical reconstruction pipeline (e.g., FreeSurfer) and summarized as mean cortical volume (mm³) within prespecified cortical ROIs (or total cortical gray matter volume, if applicable). Higher cortical volume indicates greater cortical tissue volume. Unit of Measure: mm³
Measured: Baseline
Structural MRI (sMRI) Cortical Thickness
Cortical morphology will be quantified from T1-weighted structural MRI. Cortical thickness will be computed and summarized as mean cortical thickness (mm) within prespecified cortical ROIs (or mean global cortical thickness, if applicable). Higher thickness indicates greater cortical thickness;Unit of Measure: mm
Measured: Baseline
Structural MRI (sMRI) Subcortical Structure Volume
Subcortical anatomy will be quantified from T1-weighted structural MRI. Subcortical structure volumes (e.g., amygdala, hippocampus, thalamus, caudate, putamen, pallidum) will be computed using an automated segmentation pipeline (e.g., FreeSurfer) and summarized as volume (mm³) for prespecified subcortical regions. Higher volume indicates greater structure volume; Unit of Measure: mm³
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Apr 2026
- Study start1 Apr 2026 (estimated)
- Primary completion1 Dec 2026 (estimated)
- Study completion1 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Williams SyndromeStudies of the same condition, open and under way.
- More trials run by Qilu Hospital of Shandong UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 75 participants (estimated)
- Target duration
- 1 Month
Sponsor and investigators
- Lead sponsor
- Qilu Hospital of Shandong University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07509879
- Sponsor's protocol ID
- QL000007
- Acronym
- WS and ASD
- Status last verified
- Mar 2026
- First submitted
- 23 Jan 2026
- Last updated
- 3 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum Disorder
- ClinicalTrials.gov ID
- NCT07509879
- Acronym / sponsor ID
- WS and ASD / QL000007
- Conditions
- Williams Syndrome, Autism Disorder
- Keywords
- Williams Syndrome, Autism Spectrum Disorder, Neuroimaging, Genetics
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 75 participants (estimated)
- Lead sponsor
- Qilu Hospital of Shandong UniversityUniversity, hospital or other
- Study start
- 1 Apr 2026 (estimated)
- Primary completion
- 1 Dec 2026 (estimated)
- Study completion
- 1 Dec 2026 (estimated)
- First posted
- 3 Apr 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Williams Syndrome (WS) is a rare neurodevelopmental disorder, usually caused by microdeletions of approximately 26 genes in the long arm (7q11.23) region of chromosome 7. Children with this syndrome often exhibit distinctive facial features, mild to moderate intellectual disability, impaired spatial cognition, pronounced social extraversion, and relatively reserved language-expression characteristics. Although individuals with WS often demonstrate strong social interest and prosocial behaviors, significant deficiencies in abstract thinking, executive function, and visuospatial ability are frequently observed. At present, treatment for WS mainly focuses on behavioral intervention and educational rehabilitation, and clear molecular or pharmacological treatment methods remain limited. Due to the "opposite but related" social-cognitive profile observed in comparison with autism spectrum disorder, in-depth exploration of neural and molecular mechanisms underlying these differences has substantial scientific significance for understanding the biological basis of social-cognitive impairment.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Target follow-up
- 1 Month
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Williams Syndrome | – | –After clinical diagnosis and confirmation through fluorescence in situ hybridization (FISH) testing, a typical microdeletion of approximately 1.55 Mb in the chromosome 7q11.23 region was identified. |
| Autism Spectrum disorder | – | –It meets the clinical diagnostic criteria of the Second Edition of the Autism Diagnostic Observation Scale (ADOS-2). |
| healthy children | – | –There is no history of neurodevelopmental disorders, mental illness or major neurological diseases |
Who may qualify
- Ages
- 3 to 12 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- Source of research participants: WS research participants, ASD research participants and normal children controls who visited the pediatric health rehabilitation clinic
Key inclusion criteria (18 listed)
- Age 3-12 years old.
- Clinically diagnosed and confirmed by fluorescence in situ hybridization (FISH) test, with a typical microdeletion of approximately 1.55 Mb in the chromosome 7q11.23 region.
- Their legal guardians fully understand the study content and voluntarily sign the informed consent form, agreeing for the study participants to undergo blood sampling and genetic testing.
- Participants for Autism Spectrum Disorder Study
- Age 3-12 years old.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
The score of Motor Quotient in Peabody Developmental Motor Scales, Second Edition (PDMS-2)
Time frame: Baseline
Motor development will be assessed using the Peabody Developmental Motor Scales, Second Edition (PDMS-2). The endpoint is the Motor Quotient (range: 50-150). Higher scores indicate better motor functioning (i.e., better outcome). Group differences will be evaluated across WS, ASD, and typically developing controls.
The score of Developmental Quotient (DQ) in Gesell Developmental Schedules (GDS)
Time frame: Baseline
Neurodevelopmental level will be assessed using the Gesell Developmental Schedules (Gesell Developmental Scale). The endpoint is the Developmental Quotient (DQ) (range: 0-130). Higher scores indicate better developmental functioning (i.e., better outcome). Group differences will be evaluated across WS, ASD, and typically developing controls.
Fractional Anisotropy (FA)
Time frame: baseline
White matter microstructural integrity will be quantified using DTI-derived fractional anisotropy (FA). FA values range from 0 to 1, with higher values indicating greater directional diffusion and typically better white matter integrity (i.e., better outcome). Group differences will be evaluated across WS, ASD, and typically developing controls. Unit of Measure : mm²/s (typically reported as ×10-³ mm²/s)
The score pf Social Responsiveness Scale, Second Edition (SRS-2)
Time frame: baseline
Social communication will be assessed using the Social Responsiveness Scale, Second Edition (SRS-2). The primary endpoint is the SCI T-score (range: 0-100). Higher scores indicate worse social communication impairment (i.e., poorer outcome). Group differences will be compared across WS, ASD, and typically developing controls.
6 secondary outcomes
Diffusion Tensor Imaging (DTI) Axial Diffusivity (AD)
Time frame: Baseline
Diffusion Tensor Imaging (DTI) Mean Diffusivity (MD)
Time frame: Baseline
Diffusion Tensor Imaging (DTI) Radial Diffusivity (RD)
Time frame: Baseline
Structural MRI (sMRI) Cortical Volume
Time frame: Baseline
Structural MRI (sMRI) Cortical Thickness
Time frame: Baseline
Structural MRI (sMRI) Subcortical Structure Volume
Time frame: Baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2026.
- Individual participant dataSharing planned: Yes
Related trials for Williams Syndrome
RecruitingObservational study
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Rare Disorders, Undiagnosed Disorders
Recruiting
Characterization of the Natural History of Microduplication Syndrome 7q11.23
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Enrolling by invitation
Parent and Infant Inter(X)Action Intervention (PIXI)
Fragile X Syndrome, Angelman Syndrome
RecruitingObservational study
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Williams Syndrome and Autism Disorder, run by Qilu Hospital of Shandong University at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 18 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 3 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The score of Motor Quotient in Peabody Developmental Motor Scales, Second Edition (PDMS-2) (time frame: Baseline). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Apr 2026.